ClinVar Miner

List of variants in gene combination LOC125312417, STRADA reported as likely benign for Polyhydramnios, megalencephaly, and symptomatic epilepsy

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Total variants: 20
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HGVS dbSNP gnomAD frequency
NM_001003787.4(STRADA):c.482C>T (p.Thr161Ile) rs61734987 0.00123
NM_001003787.4(STRADA):c.540G>A (p.Leu180=) rs755778322 0.00006
NM_001003787.4(STRADA):c.581+15G>A rs375783098 0.00004
NM_001003787.4(STRADA):c.552C>T (p.Asp184=) rs148873424 0.00002
NM_001003787.4(STRADA):c.510G>A (p.Leu170=) rs985956488 0.00001
NM_001003787.4(STRADA):c.513G>A (p.Ala171=) rs779411398 0.00001
NM_001003787.4(STRADA):c.522C>T (p.Tyr174=) rs771266059 0.00001
NM_001003787.4(STRADA):c.537G>T (p.Val179=) rs1472304275 0.00001
NM_001003787.4(STRADA):c.564C>T (p.His188=) rs1228260132 0.00001
NM_001003787.4(STRADA):c.580A>C (p.Arg194=) rs750255190 0.00001
NM_001003787.4(STRADA):c.581+14C>T rs368230413 0.00001
NM_001003787.4(STRADA):c.581+8C>T rs1367086685 0.00001
NM_001003787.4(STRADA):c.458-5T>C rs2036434538
NM_001003787.4(STRADA):c.498C>T (p.Gly166=) rs2511101673
NM_001003787.4(STRADA):c.507G>A (p.Glu169=) rs2511101611
NM_001003787.4(STRADA):c.513G>T (p.Ala171=) rs779411398
NM_001003787.4(STRADA):c.519T>C (p.Ala173=) rs1294531407
NM_001003787.4(STRADA):c.526C>T (p.Leu176=) rs1166773282
NM_001003787.4(STRADA):c.581+11A>C rs1171008381
NM_001003787.4(STRADA):c.581+16G>C rs2511100676

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